O00154
PR
Gene name |
ACOT7 (BACH) |
Protein name |
Cytosolic acyl coenzyme A thioester hydrolase |
Names |
Acyl-CoA thioesterase 7, Brain acyl-CoA hydrolase, BACH, hBACH, CTE-IIa, CTE-II, Long chain acyl-CoA thioester hydrolase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:11332 |
EC number |
3.1.2.2: Thiolester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for O00154
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2QQ2 | X-ray | 280 A | A/B/C/D/E/F/G/H/I/J/K/L | 209-378 | PDB |
| AF-O00154-F1 | Predicted | AlphaFoldDB |
280 variants for O00154
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA338085371 rs1465427950 |
2 | K>R | No |
ClinGen gnomAD |
|
|
CA338085344 rs1167366633 |
4 | L>F | No |
ClinGen gnomAD |
|
|
rs1422530784 CA338085338 |
4 | L>P | No |
ClinGen gnomAD |
|
|
CA338085307 rs1423461514 |
7 | A>S | No |
ClinGen TOPMed |
|
|
rs1032732342 CA17195513 |
7 | A>V | No |
ClinGen TOPMed |
|
|
rs537543895 CA559639 |
9 | R>Q | No |
ClinGen TOPMed |
|
|
rs373937124 CA559641 |
9 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 11 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775447654 CA559638 |
12 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA559636 rs759587518 |
14 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA559637 rs199893009 |
14 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 14 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA559634 rs376250754 |
15 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338085172 rs1321013417 |
16 | Q>* | No |
ClinGen gnomAD |
|
|
rs746634199 CA559633 |
16 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs773033812 CA559632 |
17 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs978568399 CA17195468 |
18 | S>T | No |
ClinGen Ensembl |
|
|
CA338085117 rs1207525275 |
20 | R>G | No |
ClinGen TOPMed |
|
|
CA17195465 rs529640665 |
20 | R>K | No |
ClinGen gnomAD |
|
|
rs1276272277 CA338085065 |
24 | A>S | No |
ClinGen TOPMed |
|
|
CA338085033 rs1486811355 |
26 | Q>* | No |
ClinGen gnomAD |
|
|
CA559629 rs779407085 |
28 | C>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 29 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA559627 rs749848196 |
30 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17195447 rs960337803 |
31 | P>L | No |
ClinGen Ensembl |
|
|
CA559625 rs371732190 |
32 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA559626 rs149893425 |
32 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA559624 rs577253801 |
33 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA17195445 rs577253801 |
33 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA338084929 rs767747865 |
33 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559623 rs767747865 |
33 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338084913 rs1415347410 |
34 | G>A | No |
ClinGen TOPMed |
|
|
CA338084917 rs1333952719 |
34 | G>W | No |
ClinGen TOPMed |
|
|
rs993269089 CA338084889 |
35 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs993269089 CA17195444 |
35 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751589406 CA559621 |
36 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338084862 rs751589406 |
36 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373815001 CA559619 |
37 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA17195439 rs777221235 |
37 | A>V | No |
ClinGen gnomAD |
|
|
CA559617 rs576668181 |
39 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559616 rs558396989 |
41 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1385443740 CA338084704 |
43 | G>E | No |
ClinGen gnomAD |
|
|
rs1303744120 CA338084711 |
43 | G>R | No |
ClinGen gnomAD |
|
|
rs369930242 CA17195435 |
44 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369930242 CA559614 |
44 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237054012 CA338084683 |
44 | P>S | No |
ClinGen TOPMed |
|
|
CA338084664 rs1421999768 |
45 | R>M | No |
ClinGen gnomAD |
|
|
rs1421999768 CA338084669 |
45 | R>T | No |
ClinGen gnomAD |
|
|
rs1359214538 CA338084655 |
46 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA338084658 rs1359214538 |
46 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1378987274 CA338084559 |
52 | G>R | No |
ClinGen gnomAD |
|
|
CA559612 rs747897842 |
53 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1265001258 CA338084541 |
54 | C>G | No |
ClinGen TOPMed |
|
|
CA559610 rs768258189 |
56 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780569034 CA559608 |
57 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559609 rs749763389 |
57 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA17185565 rs905177413 |
60 | M>L | No |
ClinGen TOPMed |
|
|
CA559529 rs762286520 |
60 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379776164 CA338100153 |
61 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs768926964 CA559528 |
61 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA17185563 rs909221872 |
62 | P>T | No |
ClinGen Ensembl |
|
|
CA338100112 rs1290686818 |
63 | D>G | No |
ClinGen TOPMed |
|
|
rs1222933619 CA338100087 |
64 | D>A | No |
ClinGen TOPMed |
|
|
CA338100041 rs1361413008 |
66 | N>S | No |
ClinGen TOPMed |
|
|
rs146315441 CA559523 |
67 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146315441 CA559524 |
67 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1428486866 CA338099975 |
69 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1428486866 CA338099978 |
69 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA559520 rs577490040 |
69 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA559519 rs778750851 |
70 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338099894 rs1218914263 |
73 | G>E | No |
ClinGen gnomAD |
|
|
CA17185560 rs978376483 |
73 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 75 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 76 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768151405 CA559513 |
81 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1314714440 CA338099672 |
85 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA338099655 rs1230109971 |
86 | I>M | No |
ClinGen gnomAD |
|
|
CA338099625 rs1571332351 |
89 | T>P | No |
ClinGen Ensembl |
|
|
CA338099615 rs1447863221 |
90 | R>Q | No |
ClinGen gnomAD |
|
|
CA559510 rs146057501 |
90 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 92 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329770993 CA338099539 |
95 | Q>H | No |
ClinGen gnomAD |
|
|
CA559507 rs376851666 |
96 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461757338 CA338099528 |
96 | N>S | No |
ClinGen gnomAD |
|
|
rs200819032 CA559506 |
97 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773070166 CA559505 |
97 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559483 rs774183563 |
99 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559482 rs768446521 |
99 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA559480 rs775140548 |
103 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769564038 CA559479 |
105 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17183529 rs868561629 |
105 | A>V | No |
ClinGen Ensembl |
|
|
rs745574437 CA559478 |
106 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1571322687 CA338098245 |
108 | E>K | No |
ClinGen Ensembl |
|
|
rs201654646 CA559476 |
109 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs373748213 CA559475 |
109 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA338098232 rs1414786344 |
110 | T>A | No |
ClinGen TOPMed |
|
|
COSM911476 COSM1584654 COSM1584653 rs758724954 CA559473 |
111 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs571173660 CA17183522 |
116 | M>I | No |
ClinGen Ensembl |
|
|
CA338098191 rs1259800054 |
116 | M>T | No |
ClinGen gnomAD |
|
|
rs1195364298 CA338098194 |
116 | M>V | No |
ClinGen gnomAD |
|
|
CA17183520 rs570697280 |
118 | I>N | No |
ClinGen Ensembl |
|
|
rs1204600566 CA338098178 |
118 | I>V | No |
ClinGen gnomAD |
|
|
CA338098172 rs1257929224 |
119 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA338098173 rs1257929224 |
119 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA338098154 rs1571322638 |
121 | V>G | No |
ClinGen Ensembl |
|
|
CA17183515 rs989978180 |
122 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1279225147 CA338098145 |
123 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1139258 CA338098125 COSM2238694 COSM536015 COSM3386283 rs766402526 |
126 | A>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766402526 CA559468 |
126 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 126 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774284617 CA559466 |
129 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1202000130 CA338098098 |
130 | Y>C | No |
ClinGen TOPMed |
|
|
rs1468963950 CA338098089 |
131 | T>S | No |
ClinGen gnomAD |
|
|
rs1486631482 CA338098081 |
133 | K>Q | No |
ClinGen gnomAD |
|
|
rs1474407886 CA338098070 |
134 | H>R | No |
ClinGen gnomAD |
|
|
rs1202082638 CA338097998 |
142 | V>M | No |
ClinGen gnomAD |
|
|
rs745484330 CA559461 |
143 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777409465 CA559457 |
145 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs375327912 CA559458 |
145 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750705052 CA559431 |
154 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs752520152 CA559428 |
160 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA559427 rs765270254 |
161 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA559426 rs759615924 |
164 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA338095906 rs1381160910 |
166 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs201223176 CA17182367 |
168 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760215965 CA559423 |
168 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201223176 CA559424 |
168 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772953044 CA559422 |
172 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA17182362 rs368031349 |
172 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772953044 CA338095873 |
172 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA559421 rs771437486 |
172 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1430040320 CA338095868 |
173 | V>I | No |
ClinGen gnomAD |
|
|
CA338095855 rs1344456977 |
175 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 177 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746248748 CA338093533 |
183 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338093530 rs1205245789 |
183 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746248748 CA559396 |
183 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1295947228 CA338093525 |
184 | Q>K | No |
ClinGen TOPMed |
|
|
rs371107823 CA559395 |
185 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377545776 CA17180787 CA559393 |
188 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338093429 rs1309211418 |
189 | E>D | No |
ClinGen gnomAD |
|
|
rs149698825 CA559392 |
191 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755794638 CA338093257 |
202 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1336516746 CA338093255 |
202 | M>T | No |
ClinGen gnomAD |
|
|
rs755794638 CA559388 |
202 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs750224209 CA559387 |
204 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA17180756 rs923978695 |
205 | K>N | No |
ClinGen TOPMed |
|
|
rs1356797708 CA338093171 |
206 | W>G | No |
ClinGen gnomAD |
|
|
rs969662589 CA17180751 |
209 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs756878806 CA559385 |
209 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA559383 rs763552799 |
210 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338093110 rs763552799 |
210 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA17180747 rs946952699 |
211 | I>V | No |
ClinGen TOPMed |
|
|
CA559380 rs765770889 |
212 | V>A | No |
ClinGen ExAC |
|
|
CA559381 rs775909215 |
212 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338093067 rs1399629667 |
213 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA338093051 rs1338770841 |
214 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA338093052 rs1338770841 |
214 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA338093048 rs1249399404 |
215 | V>I | No |
ClinGen gnomAD |
|
|
CA559379 rs760021475 |
216 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs919860912 CA338090761 |
220 | P>L | No |
ClinGen TOPMed |
|
|
rs919860912 CA17176004 |
220 | P>R | No |
ClinGen TOPMed |
|
|
CA338090747 rs1490160900 |
221 | N>D | No |
ClinGen gnomAD |
|
|
rs1359448426 CA338090729 |
221 | N>K | No |
ClinGen TOPMed |
|
|
CA17176001 rs202174956 |
225 | Y>S | No |
ClinGen Ensembl |
|
|
rs758025592 CA559347 |
236 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA17175976 rs1018249787 |
239 | C>G | No |
ClinGen Ensembl |
|
|
CA338090149 rs1571303137 |
240 | T>P | No |
ClinGen Ensembl |
|
|
CA338090077 rs202168775 |
242 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA559344 rs754471352 |
243 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA559343 rs569408128 |
245 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1383361120 CA338089931 |
247 | G>R | No |
ClinGen gnomAD |
|
|
CA338083096 rs1425315420 |
248 | G>D | No |
ClinGen gnomAD |
|
|
CA559313 rs773157928 |
251 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338082954 rs867443511 |
255 | D>E | No |
ClinGen gnomAD |
|
|
CA338082871 rs1456669455 |
259 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA338082807 rs1361062007 |
261 | V>M | No |
ClinGen gnomAD |
|
|
CA338082786 rs1310476828 |
262 | A>T | No |
ClinGen TOPMed |
|
|
CA338082742 rs1244850953 |
264 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201187410 CA559308 |
264 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA559307 rs779677519 |
268 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs755713548 CA559306 |
270 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781767639 CA559304 |
271 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs995722072 CA17163472 |
272 | T>S | No |
ClinGen TOPMed |
|
|
rs757573621 CA559303 |
273 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1181622 COSM1181623 rs1408926334 CA338081189 COSM1181621 |
277 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA338081152 rs1468867755 |
279 | N>D | No |
ClinGen gnomAD |
|
|
rs1468867755 CA338081155 |
279 | N>H | No |
ClinGen gnomAD |
|
| TCGA novel | 287 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338104507 rs760234992 |
289 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559247 rs760234992 |
289 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA559246 rs772662485 |
292 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA338104482 rs1284669372 |
293 | S>A | No |
ClinGen gnomAD |
|
|
CA559245 rs772551653 |
293 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138220668 CA559243 |
295 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1455009318 CA338104472 |
295 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA559242 rs138220668 |
295 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1158101377 CA338104464 |
296 | M>I | No |
ClinGen gnomAD |
|
|
CA17185622 rs766912861 |
296 | M>V | No |
ClinGen Ensembl |
|
|
rs373628657 CA559240 |
297 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs552618053 CA559239 |
299 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA338104444 rs1431580393 |
299 | T>M | No |
ClinGen gnomAD |
|
|
rs1486956499 CA338104429 |
301 | N>K | No |
ClinGen gnomAD |
|
|
rs376071703 CA559236 |
301 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752711896 CA559235 |
303 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA17185605 rs959354776 |
304 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA17185601 rs987126579 |
305 | E>D | No |
ClinGen Ensembl |
|
|
CA338104407 rs1194342868 |
305 | E>K | No |
ClinGen TOPMed |
|
|
rs1571266162 CA338104378 |
308 | V>G | No |
ClinGen Ensembl |
|
|
rs754831608 CA559233 |
308 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA338104383 rs754831608 |
308 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA338104367 rs766047954 |
309 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338104373 rs753364120 |
309 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906710628 CA17185592 |
309 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA559228 rs368731455 |
312 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338104144 rs1571266127 |
313 | D>A | No |
ClinGen Ensembl |
|
|
CA559225 rs768954851 |
313 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559226 rs774864324 |
313 | D>N | No |
ClinGen ExAC TOPMed |
|
|
CA338104084 rs1465465608 |
317 | D>G | No |
ClinGen gnomAD |
|
|
CA559223 rs775787329 |
318 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs775787329 CA338104066 |
318 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1193948510 CA338104054 |
319 | S>P | No |
ClinGen gnomAD |
|
|
CA338104009 rs1293458501 |
321 | K>R | No |
ClinGen TOPMed |
|
|
rs770045340 CA559222 |
322 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746127296 CA559221 |
322 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770045340 CA17185573 |
322 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA559220 rs781390925 |
323 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1553155214 RCV000522552 CA338103987 |
323 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781390925 CA338103984 |
323 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA338103969 rs1245339908 |
324 | R>Q | No |
ClinGen gnomAD |
|
|
CA338103974 rs1462096844 |
324 | R>W | No |
ClinGen gnomAD |
|
|
rs1465262924 CA338103842 |
331 | T>P | No |
ClinGen TOPMed |
|
|
rs548336852 CA559217 |
333 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs548336852 CA338103808 |
333 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs754935873 CA559216 |
334 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753650981 CA559215 |
336 | S>N | No |
ClinGen ExAC |
|
|
CA17185561 rs776508937 |
337 | Q>R | No |
ClinGen gnomAD |
|
|
CA559213 rs372605671 |
340 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA338103594 rs1168586569 |
341 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763429438 CA559207 |
345 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs377058354 CA17185559 |
345 | P>S | No |
ClinGen gnomAD |
|
|
CA338103486 rs1251798273 |
347 | L>M | No |
ClinGen gnomAD |
|
|
rs773391670 CA559181 |
349 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982161357 CA338100199 |
350 | E>K | No |
ClinGen gnomAD |
|
|
rs982161357 CA17178062 |
350 | E>Q | No |
ClinGen gnomAD |
|
|
rs61739540 CA17178048 |
351 | T>I | No |
ClinGen Ensembl |
|
|
rs1015285625 CA17178025 |
352 | E>K | No |
ClinGen gnomAD |
|
|
rs745661134 CA559175 |
354 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1199521876 CA338100128 |
354 | E>G | No |
ClinGen gnomAD |
|
|
CA338100134 rs1411801660 |
354 | E>K | No |
ClinGen gnomAD |
|
|
CA338100077 rs1244458814 |
357 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1557620702 CA338100074 |
357 | R>H | No |
ClinGen Ensembl |
|
| TCGA novel | 364 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756883014 CA559173 |
364 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM295968 COSM1639938 rs781024703 CA559174 COSM1639939 |
364 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA338099866 rs578211150 |
370 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA559171 rs578211150 |
370 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA338099868 rs578211150 |
370 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1584663 COSM911424 rs745847219 COSM1584664 CA17177987 |
372 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs757859106 CA338099840 |
372 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs757859106 CA559169 |
372 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA559168 rs376418225 |
373 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA559167 rs765656734 |
373 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA338099814 rs1436067174 |
374 | G>D | No |
ClinGen gnomAD |
|
|
rs1322986457 CA338099798 |
375 | H>P | No |
ClinGen gnomAD |
|
|
CA338099782 rs139667005 |
376 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA559163 rs139667005 |
376 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA559164 rs192112480 |
376 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA559165 rs192112480 |
376 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139667005 CA559162 |
376 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767579371 CA559158 |
377 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA559156 rs774559938 |
378 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs761807487 CA559157 |
378 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA338099727 rs1186451550 |
379 | Q>H | No |
ClinGen gnomAD |
|
|
rs201437597 CA559154 |
379 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373266176 CA559152 |
380 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776380865 CA559153 |
380 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1212202292 CA338099698 |
381 | P>Y | No |
ClinGen gnomAD |
No associated diseases with O00154
4 regional properties for O00154
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Thioesterase domain | 69 - 149 | IPR006683-1 |
| domain | Thioesterase domain | 242 - 312 | IPR006683-2 |
| domain | Hotdog acyl-CoA thioesterase (ACOT)-type domain | 50 - 168 | IPR033120-1 |
| domain | Hotdog acyl-CoA thioesterase (ACOT)-type domain | 224 - 338 | IPR033120-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.2.2 | Thiolester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| acyl-CoA hydrolase activity | Catalysis of the reaction: acyl-CoA + H2O = CoA + a carboxylate. |
| carboxylic ester hydrolase activity | Catalysis of the hydrolysis of a carboxylic ester bond. |
| fatty-acyl-CoA binding | Binding to a fatty-acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with a fatty acyl group. |
| long-chain fatty acyl-CoA binding | Binding to a long-chain fatty acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a long-chain fatty-acyl group. Long-chain fatty-acyl-CoAs have chain lengths of C13 or more. |
| myristoyl-CoA hydrolase activity | Catalysis of the reaction: myristoyl-CoA + H2O <=> H+ + tetradecanoate + coenzyme A. |
| palmitoyl-CoA hydrolase activity | Catalysis of the reaction: palmitoyl-CoA + H2O = CoA + palmitate. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| acyl-CoA metabolic process | The chemical reactions and pathways involving acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with an acyl group. |
| coenzyme A biosynthetic process | The chemical reactions and pathways resulting in the formation of coenzyme A, 3'-phosphoadenosine-(5')diphospho(4')pantatheine, an acyl carrier in many acylation and acyl-transfer reactions in which the intermediate is a thiol ester. |
| fatty acid metabolic process | The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. |
| long-chain fatty-acyl-CoA catabolic process | The chemical reactions and pathways resulting in the breakdown of long-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a medium-chain fatty-acyl group. A long-chain fatty acid is a fatty acid with a chain length between C13 and C22. |
| medium-chain fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of any fatty acid with a chain length of between C6 and C12. |
| medium-chain fatty-acyl-CoA catabolic process | The chemical reactions and pathways resulting in the breakdown of medium-chain fatty-acyl-CoAs, any derivative of coenzyme A in which the sulfhydryl group is in a thioester linkage with a medium-chain fatty-acyl group. A medium-chain fatty acid is a fatty acid with a chain length of between C6 and C12. |
| palmitic acid biosynthetic process | The chemical reactions and pathways resulting in the formation of palmitic acid. |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX2 | ACOT9 | Acyl-coenzyme A thioesterase 9, mitochondrial | Bos taurus (Bovine) | PR |
| Q9Y305 | ACOT9 | Acyl-coenzyme A thioesterase 9, mitochondrial | Homo sapiens (Human) | PR |
| Q8WYK0 | ACOT12 | Acetyl-coenzyme A thioesterase | Homo sapiens (Human) | PR |
| Q9DBK0 | Acot12 | Acetyl-coenzyme A thioesterase | Mus musculus (Mouse) | PR |
| Q9R0X4 | Acot9 | Acyl-coenzyme A thioesterase 9, mitochondrial | Mus musculus (Mouse) | PR |
| Q32MW3 | Acot10 | Acyl-coenzyme A thioesterase 10, mitochondrial | Mus musculus (Mouse) | PR |
| Q8VHQ9 | Acot11 | Acyl-coenzyme A thioesterase 11 | Mus musculus (Mouse) | PR |
| Q91V12 | Acot7 | Cytosolic acyl coenzyme A thioester hydrolase | Mus musculus (Mouse) | PR |
| Q99NB7 | Acot12 | Acetyl-coenzyme A thioesterase | Rattus norvegicus (Rat) | PR |
| Q64559 | Acot7 | Cytosolic acyl coenzyme A thioester hydrolase | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKLLARALRL | CEFGRQASSR | RLVAGQGCVG | PRRGCCAPVQ | VVGPRADLPP | CGACITGRIM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RPDDANVAGN | VHGGTILKMI | EEAGAIISTR | HCNSQNGERC | VAALARVERT | DFLSPMCIGE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VAHVSAEITY | TSKHSVEVQV | NVMSENILTG | AKKLTNKATL | WYVPLSLKNV | DKVLEVPPVV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YSRQEQEEEG | RKRYEAQKLE | RMETKWRNGD | IVQPVLNPEP | NTVSYSQSSL | IHLVGPSDCT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LHGFVHGGVT | MKLMDEVAGI | VAARHCKTNI | VTASVDAINF | HDKIRKGCVI | TISGRMTFTS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NKSMEIEVLV | DADPVVDSSQ | KRYRAASAFF | TYVSLSQEGR | SLPVPQLVPE | TEDEKKRFEE |
| 370 | |||||
| GKGRYLQMKA | KRQGHAEPQP |